Carrier frequency of spinal muscular atrophy in Thailand

Dejsuphong, Donniphat; Taweewongsounton, Aruchalean; Khemthong, Pollawat; Chitphuk, Sermsiri; Stitchantrakul, Wasana; Sritara, Piyamitr; Tunteeratum, Atchara; Sura, Thanyachai

doi:10.1007/s10072-019-03885-5

Cited by 11 publications

(9 citation statements)

References 10 publications

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“…10,11,16 However, information on the prevalence of SMA in Asia is limited, especially in mainland China. 17 Carrier screening of the general population in Hong Kong was first reported in 2004, 18 whereas Su et al 19 conducted carrier screening for SMA in 107,611 pregnant women in Taiwan in 2010, and the SMN1 gene copy number was identified in 4719 pregnant women in Shanghai in 2013, representing the largest study in mainland China before the current study. 20 In the current program, carrier screening for SMA was conducted in mainland China by quantifying the copy numbers of the SMN1 gene in study participants using qPCR.…”

Section: Discussionmentioning

confidence: 78%

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

Zhang

Wang

et al. 2020

The Journal of Molecular Diagnostics

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Spinal muscular atrophy (SMA) is a relatively common, life-shortening, autosomal recessive neuromuscular disease. The carrier frequency of SMA ranges from approximately 0.98% to 2.02%, depending on ethnicity. The American College of Medical Genetics has therefore recommended population screening for SMA carrier status, regardless of race or ethnicity. We performed the largest-scale carrier screening for SMA carriers in mainland China. Carrier screening was offered to 36,470 pregnant women between July 2017 and June 2019, of whom 13,069 women accepted the screening program [35.83%; 95% credibility interval (CI), 35.34%e36.33%]. Copy numbers of exons 7 and 8 in the SMN1 gene were detected by real-time quantitative PCR, and the results were confirmed by multiplex ligation-dependent probe amplification. A total of 231 women were identified as carriers (1.77%; 95% CI, 1.56%e2.01%), indicating a carrier prevalence of approximately 1:56 in the population. After detailed genetic counseling, 207 paternal partners were recalled and tested. Both partners were carriers in 10 couples, of whom prenatal diagnosis was implemented in seven, and one fetus was diagnosed with SMA. Carrier screening could provide couples with informed reproductive choices. Our workflow and experience of carrier screening may facilitate the popularization of SMA carrier screening in mainland China.

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Section: Discussionmentioning

confidence: 78%

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

Zhang

Wang

et al. 2020

The Journal of Molecular Diagnostics

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“…A meta‐analysis conducted in China included a total sample of more than 120,000 reported the prevalence of SMA carriers in China as the pooled rate of 2.0% (Li et al, 2020). Similarly, a study from Thailand established the carrier frequency of SMA in the selected Thai population at 1.8% (Dejsuphong et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

Spinal muscular atrophy carrier frequency in Saudi Arabia

Aljumah

Rajeh

Eyaid

et al. 2022

Molec Gen & Gen Med

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Background: Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no largescale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages. Methods:The final analysis included 4198 normal volunteers aged between 18 and 25 years old, 54.7% males, and 45.3% females. Whole blood was spotted directly from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed. We used the carrier frequency and population-level data to estimate the prevalence of SMA in the population using the life-table method.Results: This data analysis showed the presence of one copy of the SMN1 gene in 108 samples and two copies in 4090 samples, which resulted from a carrier frequency of 2.6%. The carrier frequency was twofold in females reaching 3.7% compared to 1.6% in males. 27% of participants were children of first-cousin marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III. Conclusion:The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.

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“…It requires DNA free from impurities that may affect MLPA performance due to its greater sensitivity to impurities 26 , 27 . In most studies of SMA carrier screening, MLPA method was adopted as an independent screening tool 15 , 28 or a validated method of positive results detected by other methods 9 , 29 – 31 . However, the retest rate of MLPA method has never been researched and analyzed systematically.…”

Section: Discussionmentioning

confidence: 99%

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene

Zhao

Wang

Xin

et al. 2022

Sci Rep

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Spinal muscular atrophy (SMA) is one of the most common and severe genetic diseases. SMA carrier screening is an effective way to identify couples at risk of having affected children. Next-generation sequencing (NGS)-based expanded carrier screening could detect SMN1 gene copy number without extra experiment and with high cost performance. However, its performance has not been fully evaluated. Here we conducted a systematic comparative study to evaluate the performance of three common methods. 478 samples were analyzed with multiplex ligation probe amplification (MLPA), real-time quantitative polymerase chain reaction (qPCR) and NGS, simultaneously. Taking MLPA-based results as the reference, for 0 copy, 1 copy and ≥ 2 copy SMN1 analysis with NGS, the sensitivity, specificity and precision were all 100%. Using qPCR method, the sensitivity was 100%, 97.52% and 94.30%, respectively; 98.63%, 95.48% and 100% for specificity; and 72.72%, 88.72% and 100% for precision. NGS repeatability was higher than that of qPCR. Moreover, among three methods, NGS had the lowest retest rate. Thus, NGS is a relatively more reliable method for SMN1 gene copy number detection. In expanded carrier screening, compared with the combination of multiple methods, NGS method could reduce the test cost and simplify the screening process.

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Carrier frequency of spinal muscular atrophy in Thailand

Cited by 11 publications

References 10 publications

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in 13,069 Chinese Pregnant Women

Spinal muscular atrophy carrier frequency in Saudi Arabia

Next generation sequencing is a highly reliable method to analyze exon 7 deletion of survival motor neuron 1 (SMN1) gene

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